{ "url": "https://dantelabs.com/el/genes/lias", "gene": { "slug": "lias", "symbol": "LIAS", "name": "lipoic acid synthetase", "hgnc": "HGNC:16429", "summary": null, "location": "4p14", "locusType": "gene with protein product", "aliases": [ "LAS" ], "previousSymbols": [], "ensemblId": "ENSG00000121897", "entrezId": 11019, "omim": [ "607031" ], "uniprot": [ "O43766" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 39459056, "end": 39479506, "strand": "+", "ensemblTranscript": "ENST00000640888.2", "refseqTranscript": "NM_006859.4", "ensemblProtein": "ENSP00000492260.1", "refseqProtein": "NP_006850.2", "exons": [ { "start": 39459056, "end": 39459162 }, { "start": 39460790, "end": 39460962 }, { "start": 39462196, "end": 39462289 }, { "start": 39463525, "end": 39463605 }, { "start": 39465046, "end": 39465202 }, { "start": 39465285, "end": 39465342 }, { "start": 39467518, "end": 39467646 }, { "start": 39470019, "end": 39470164 }, { "start": 39471236, "end": 39471306 }, { "start": 39473100, "end": 39473211 }, { "start": 39477063, "end": 39479506 } ], "cds": { "start": 39459118, "end": 39477115 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 39460620, "end": 39479273, "strand": "+" }, "neighbourhood": { "release": "116", "start": 38969281, "end": 39969280, "genes": [ { "symbol": "TMEM156", "ensemblId": "ENSG00000121895", "biotype": "protein_coding", "start": 38965999, "end": 39032922, "strand": "-", "slug": "tmem156" }, { "symbol": "KLHL5", "ensemblId": "ENSG00000109790", "biotype": "protein_coding", "start": 39044613, "end": 39126857, "strand": "+", "slug": "klhl5" }, { "symbol": "WDR19", "ensemblId": "ENSG00000157796", "biotype": "protein_coding", "start": 39182463, "end": 39285810, "strand": "+", "slug": "wdr19" }, { "symbol": "RFC1", "ensemblId": "ENSG00000035928", "biotype": "protein_coding", "start": 39287455, "end": 39366400, "strand": "-", "slug": "rfc1" }, { "symbol": "KLB", "ensemblId": "ENSG00000134962", "biotype": "protein_coding", "start": 39406896, "end": 39451533, "strand": "+", "slug": "klb" }, { "symbol": "RPL9", "ensemblId": "ENSG00000163682", "biotype": "protein_coding", "start": 39450679, "end": 39472424, "strand": "-", "slug": "rpl9" }, { "symbol": "UGDH", "ensemblId": "ENSG00000109814", "biotype": "protein_coding", "start": 39498755, "end": 39528311, "strand": "-", "slug": "ugdh" }, { "symbol": "SMIM14", "ensemblId": "ENSG00000163683", "biotype": "protein_coding", "start": 39546336, "end": 39639092, "strand": "-", "slug": "smim14" }, { "symbol": "UBE2K", "ensemblId": "ENSG00000078140", "biotype": "protein_coding", "start": 39697879, "end": 39782792, "strand": "+", "slug": "ube2k" }, { "symbol": "PDS5A", "ensemblId": "ENSG00000121892", "biotype": "protein_coding", "start": 39822863, "end": 39977993, "strand": "-", "slug": "pds5a" } ], "truncated": false }, "reports": [ { "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency", "name": "Ανεπάρκεια Πυρουβικής Αφυδρογονάσης & Πυρουβικής Καρβοξυλάσης", "diseases": [ { "mondoId": "MONDO:0019169", "name": "Ανεπάρκεια Πυρουβικής Αφυδρογονάσης", "genes": 7, "inheritance": "autosomal-recessive", "description": "Προκαλείται από παραλλαγές στο PDHA1 (συνδεδεμένη με το X χρωμόσωμα, συχνά νέα στο παιδί) ή στα PDHB, DLAT, PDHX, DLD, PDP1 ή LIAS, οι οποίες μπορούν να προκαλέσουν γαλακτική οξέωση, καθυστέρηση ανάπτυξης, σπασμούς και κινητικά προβλήματα.", "management": "Η γνώση επιτρέπει τη χρήση κετογονικής δίαιτας, την αποφυγή μεγάλων φορτίων υδατανθράκων και τη θειαμίνη για τις ανταποκρινόμενες μορφές.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Σπάνιες κληρονομικές περιφερικές νευροπάθειες", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Κληρονομική περιφερική νευροπάθεια", "genes": 233, "inheritance": null, "description": "Προκαλείται από μεταβολές σε ένα από τα πολλά γονίδια που είναι απαραίτητα για τη διατήρηση της υγείας των μακριών νευρικών ινών. Σε αυτή την αναφορά, μεταξύ αυτών περιλαμβάνονται τα IGHMBP2 και PLEKHG5, τα οποία είναι υπολειπόμενα.", "management": "Η φυσικοθεραπεία, οι ορθώσεις και η εργοθεραπεία βοηθούν στη διατήρηση της κινητικότητας, με χειρουργική επέμβαση για παραμορφώσεις των ποδιών όταν χρειάζεται. Ορισμένες μορφές απαιτούν παρακολούθηση της αναπνοής. Η γενετική συμβουλευτική καθοδηγεί τον έλεγχο της οικογένειας σύμφωνα με τον τρόπο κληρονομικότητας του εμπλεκόμενου γονιδίου.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/el/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/apnea" }, { "slug": "cerebral-edema", "name": "Brain swelling", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-edema" }, { "slug": "decreased-activity-of-the-pyruvate-dehydrogenase-complex", "name": "Decreased activity of the pyruvate dehydrogenase complex", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "reduced-tissue-glycine-cleavage-enzyme-activity", "name": "Reduced tissue glycine cleavage enzyme activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-tissue-glycine-cleavage-enzyme-activity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-tetraplegia" } ], "related": [ { "slug": "dlat", "symbol": "DLAT", "name": "dihydrolipoamide S-acetyltransferase", "shared": 2, "url": "https://dantelabs.com/el/genes/dlat" }, { "slug": "dld", "symbol": "DLD", "name": "dihydrolipoamide dehydrogenase", "shared": 2, "url": "https://dantelabs.com/el/genes/dld" }, { "slug": "pdha1", "symbol": "PDHA1", "name": "pyruvate dehydrogenase E1 subunit alpha 1", "shared": 2, "url": "https://dantelabs.com/el/genes/pdha1" }, { "slug": "pdhb", "symbol": "PDHB", "name": "pyruvate dehydrogenase E1 subunit beta", "shared": 2, "url": "https://dantelabs.com/el/genes/pdhb" }, { "slug": "pdhx", "symbol": "PDHX", "name": "pyruvate dehydrogenase complex component X", "shared": 2, "url": "https://dantelabs.com/el/genes/pdhx" }, { "slug": "pdp1", "symbol": "PDP1", "name": "pyruvate dehydrogenase phosphatase catalytic subunit 1", "shared": 2, "url": "https://dantelabs.com/el/genes/pdp1" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/el/genes/aars1" }, { "slug": "abhd12", "symbol": "ABHD12", "name": "abhydrolase domain containing 12, lysophospholipase", "shared": 1, "url": "https://dantelabs.com/el/genes/abhd12" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/el/genes/aifm1" }, { "slug": "apoa1", "symbol": "APOA1", "name": "apolipoprotein A1", "shared": 1, "url": "https://dantelabs.com/el/genes/apoa1" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/el/genes/arsa" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/el/genes/atl1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }